Canonical Allele Identifier: CA2594230623

Gene: LPL

Linked Data

• dbSNP Id: rs2128837758
• gnomAD v3: 8-19952120-G-T
• gnomAD v4: 8-19952120-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19952120G>T , CM000670.2:g.19952120G>T	GRCh38
NC_000008.10:g.19809631G>T , CM000670.1:g.19809631G>T	GRCh37
NC_000008.9:g.19853911G>T	NCBI36
NG_008855.1:g.18050G>T
NG_008855.2:g.55404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.429+172G>T MANE Select	ENSP00000497642.1:n.429+172G>T
ENST00000311322.8:c.429+172G>T	ENSP00000309757.6:n.429+172G>T
ENST00000520959.5:c.201+172G>T	ENSP00000428496.1:n.201+172G>T
NM_000237.2:c.429+172G>T	NP_000228.1:n.429+172G>T
NM_000237.3:c.429+172G>T MANE Select	NP_000228.1:n.429+172G>T